Showing results (361-370 of 4,750) with videos related to

Sort By:
Pageof 475
Orphanet Journal of Rare Diseases|September 24, 2024
Functional benefit of joint surgery in patients with non-vascular Ehlers-Danlos syndrome: results of a retrospective studySharon Abihssira, Karelle Benistan, Geoffroy Nourissat
Orphanet Journal of Rare Diseases|September 24, 2024
Economic burden and health-related quality of life in patients with epidermolysis bullosa in SpainIsaac Aranda-Reneo, Juan Oliva-Moreno, Luz María Peña-Longobardo, et al.
Orphanet Journal of Rare Diseases|September 20, 2024
A rare transcript homozygous variants in CLRN1(USH3A) causes Usher syndrome type 3 in a Chinese familySuyang Wang, Chen Yang Xu, Yiming Zhu, et al.
Orphanet Journal of Rare Diseases|October 18, 2024
An estimation of global genetic prevalence of PLA2G6-associated neurodegenerationAmina Kurtovic-Kozaric, Moriel Singer-Berk, Jordan Wood, et al.
Orphanet Journal of Rare Diseases|October 18, 2024
Morphometric measurements of intraoral anatomy in children with Beckwith-Wiedemann syndrome: a novel approachDominic J Romeo, Andrew M George, Jonathan H Sussman, et al.
Orphanet Journal of Rare Diseases|November 5, 2024
PHARC syndrome: an overviewLusine Harutyunyan, Patrick Callaerts, Sascha Vermeer
Orphanet Journal of Rare Diseases|October 29, 2024
Cost-utility analysis for sublingual versus intravenous edaravone in the treatment of amyotrophic lateral sclerosisChang Liu, Yao Wu, Fangxu Wang, et al.
Orphanet Journal of Rare Diseases|November 4, 2024
Whole-body MRI-based long-term evaluation of pediatric NF1 patients without initial tumor burden with evidence of newly developed peripheral nerve sheath tumorsMarie-Lena Schmalhofer, Said Farschtschi, Lan Kluwe, et al.
Orphanet Journal of Rare Diseases|September 12, 2024
SATURN: assessing the feasibility of utilising existing registries for real-world evidence data collection to meet patients, regulatory, health technology assessment and payer requirementsL Sangiorgi, M Boarini, M Mordenti, et al.
Orphanet Journal of Rare Diseases|September 12, 2024
Meta-analysis of bone mineral density in adults with phenylketonuriaJúlio C Rocha, Álvaro Hermida, Cheryl J Jones, et al.
Pageof 475